V97M (p.Val97Met) variant of TTN (Titin)
V97M (p.Val97Met) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and published literature.
V97M (p.Val97Met) variant details
- p.Val97Met
- rs185921345
- ClinGen CA182016
- cosmic curated COSV59907
- ClinVar RCV000155019
- Benign
- Missense
- CADD 24.30
- PolyPhen-2 0.95
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)